Works matching Hereditary leiomyomatosis

Results: 265
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    Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88585-x
    By:
    • Bateman, Nicholas W.;
    • Tarney, Christopher M.;
    • Abulez, Tamara;
    • Soltis, Anthony R.;
    • Zhou, Ming;
    • Conrads, Kelly;
    • Litzi, Tracy;
    • Oliver, Julie;
    • Hood, Brian;
    • Driggers, Paul;
    • Viollet, Coralie;
    • Dalgard, Clifton;
    • Wilkerson, Matthew;
    • Catherino, William;
    • Hamilton, Chad A.;
    • Darcy, Kathleen M.;
    • Casablanca, Yovanni;
    • Al-Hendy, Ayman;
    • Segars, James;
    • Conrads, Thomas P.
    Publication type:
    Article
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    Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.

    Published in:
    Clinical Genetics, 2017, v. 92, n. 6, p. 606, doi. 10.1111/cge.13014
    By:
    • Muller, M.;
    • Ferlicot, S.;
    • Guillaud-Bataille, M.;
    • Le Teuff, G.;
    • Genestie, C.;
    • Deveaux, S.;
    • Slama, A.;
    • Poulalhon, N.;
    • Escudier, B.;
    • Albiges, L.;
    • Soufir, N.;
    • Avril, M.-F.;
    • Gardie, B.;
    • Saldana, C.;
    • Allory, Y.;
    • Gimenez-Roqueplo, A.-P.;
    • Bressac-de Paillerets, B.;
    • Richard, S.;
    • Benusiglio, P.R.
    Publication type:
    Article
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    Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

    Published in:
    Cancers, 2020, v. 12, n. 11, p. 3277, doi. 10.3390/cancers12113277
    By:
    • Sánchez-Heras, A. Beatriz;
    • Castillejo, Adela;
    • García-Díaz, Juan D.;
    • Robledo, Mercedes;
    • Teulé, Alexandre;
    • Sánchez, Rosario;
    • Zúñiga, Ángel;
    • Lastra, Enrique;
    • Durán, Mercedes;
    • Llort, Gemma;
    • Yagüe, Carmen;
    • Ramon y Cajal, Teresa;
    • López San Martin, Consol;
    • López-Fernández, Adrià;
    • Balmaña, Judith;
    • Robles, Luis;
    • Mesa-Latorre, José M.;
    • Chirivella, Isabel;
    • Fonfria, María;
    • Perea Ibañez, Raquel
    Publication type:
    Article
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    Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

    Published in:
    Clinical Genetics, 2011, v. 79, n. 1, p. 49, doi. 10.1111/j.1399-0004.2010.01486.x
    By:
    • Smit, D. L.;
    • Mensenkamp, A. R.;
    • Badeloe, S.;
    • Breuning, M. H.;
    • Simon, M. E. H.;
    • Van Spaendonck, K. Y.;
    • Aalfs, C. M.;
    • Post, J. G.;
    • Shanley, S.;
    • Krapels, I. P. C.;
    • Hoefsloot, L. H.;
    • Van Moorselaar, R. J. A.;
    • Starink, T. M.;
    • Bayley, J.-P.;
    • Frank, J.;
    • Van Steensel, M. A. M.;
    • Menko, F. H.
    Publication type:
    Article
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    Hereditary Leiomyomatosis and Renal Cell Cancer.

    Published in:
    Acta Dermato-Venereologica, 2020, v. 100, n. 1, p. 1, doi. 10.2340/00015555-3366
    By:
    • HANSEN, Anders Würgler;
    • CHAYED, Zahraa;
    • PALLESEN, Kristine;
    • CODRUTA VASILESCU, Ileana;
    • BYGUM, Anette
    Publication type:
    Article
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    Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03017-z
    By:
    • Sánchez-Heras, Ana Beatriz;
    • Dámaso, Estela;
    • Castillejo, Adela;
    • Robledo, Mercedes;
    • Teulé, Alexandre;
    • Lázaro, Conxi;
    • Sánchez-Martínez, Rosario;
    • Zúñiga, Ángel;
    • López-Fernández, Adrià;
    • Balmaña, Judith;
    • Robles, Luis;
    • Ramon y Cajal, Teresa;
    • Castillejo, M. Isabel;
    • Ibañez, Raquel Perea;
    • Sevila, Carmen Martínez;
    • Sánchez-Mira, Andrea;
    • Escandell, Inés;
    • Gómez, Luís;
    • Berbel, Pere;
    • Soto, José Luis
    Publication type:
    Article
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    Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 22, p. 3135, doi. 10.1093/hmg/ddad131
    By:
    • Crooks, Daniel R;
    • Cawthon, Geetha Mariah;
    • Fitzsimmons, Christina M;
    • Perez, Minervo;
    • Ricketts, Christopher J;
    • Vocke, Cathy D;
    • Yang, Ye;
    • Middelton, Lindsay;
    • Nielsen, Debbie;
    • Schmidt, Laura S;
    • Tandon, Mayank;
    • Merino, Maria J;
    • Ball, Mark W;
    • Meier, Jordan L;
    • Batista, Pedro J;
    • Linehan, William Marston
    Publication type:
    Article
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